Mutation Details for c.379_381dupTTA

cDNA Name c.379_381dupTTA 
Protein Name p.Leu127dup 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L127dup 
Other Details  
Contributors E. Rohlfs  
Submitted Phenotype Details suspected diagnosis of CF and positive sweat chloride test 
Reference not published 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011